ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.147+6T>C

dbSNP: rs2135881175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941415 SCV002219629 uncertain significance Peroxisome biogenesis disorder 2B 2021-10-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with PEX5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the PEX5 gene. It does not directly change the encoded amino acid sequence of the PEX5 protein. It affects a nucleotide within the consensus splice site.

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